Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Genetic variants of parp4 gene and parp4p2 pseudogene in patients with multiple primary tumors including thyroid cancer
In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 2, 2019 Category: Cytology Source Type: research

In yeast cells arrested at the early S-phase by hydroxyurea, rRNA gene promoters and chromatin are poised for transcription while rRNA synthesis is compromised
This study indicates a hitherto unexplored cellular response to HU, namely altered rRNA synthesis, which could participate to hamper cell division. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 28, 2019 Category: Cytology Source Type: research

Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues
Publication date: Available online 25 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Mr Abdulaziz Hamid, Ruben PetreacaAbstractHere we present and describe data on homozygous deletions (HD) of human CDKN2 A and neighboring regions on the p arm of Chromosome 9 from cancer genome sequences deposited on the online Catalogue of Somatic Mutations in Cancer (COSMIC) database. Although CDKN2 A HDs have been previously described in many cancers, this is a pan-cancer report of these aberrations with the aim to map the distribution of the breakpoints. We find that HDs of this lo...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 26, 2019 Category: Cytology Source Type: research

A method for the cell-cycle-specific analysis of radiation-induced chromosome aberrations and breaks
Publication date: Available online 6 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aashish Soni, Tamara Murmann-Konda, George IliakisAbstractThe classical G2-assay is widely used to assess cell-radiosensitivity and cancer phenotype: Cells are exposed to low doses of ionizing-radiation (IR) and collected for cytogenetic- analysis ˜1.5 h later. In this way, chromosome-damage is measured in cells irradiated in G2-phase, without retrieving information regarding kinetics of chromosome-break-repair. Modification of the assay to include analysis at multiple time-points after ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 6, 2019 Category: Cytology Source Type: research

Mutational pressure and natural selection in epidermal growth factor receptor gene during germline and somatic mutagenesis in cancer cells
In this study we investigated nucleotide usage biases along the length of a gene encoding human epidermal growth factor receptor (EGFR) and found out that there had been mutational GC-pressure with stronger asymmetric C-pressure in that gene before the preferable direction of nucleotide mutations changed. Current preferable direction of germline mutations in EGFR gene has been estimated with the help of Ensembl data base of gene variations. Preferable direction of somatic mutations in EGFR gene from cancer cells has been estimated with the help of COSMIC data base. Both germline and somatic mutations in cancer cells have t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 5, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 7, 2019 Category: Cytology Source Type: research

High concentration of sugars is genotoxic to folate-deficient cells
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841 and L02 ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 23, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 813Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 12, 2019 Category: Cytology Source Type: research

Dimerization defective MODY mutations of hepatocyte nuclear factor 4α
In this report, we present a set of data for the two MODY1 mutations found right at the dimerization interface (L332 P and L328del mutations) which clearly exhibit the disruptive effects of directly affecting dimerization, protein stability, and transcriptional activities. These data reinforced the fact that MODY mutations are loss-of-function mutations and HNF4α dimerization is essential for its optimal function and normal physiology. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

High Concentration of Sugars is Genotoxic in Folate Deficient Cells
Publication date: Available online 9 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

Molecular Interactions and Mutational Impact upon Rhodopsin (G90→D90) for Hindering Dark Adaptation of Eye: A Comparative Structural Level Outlook for Signaling Mechanism in Night Blindness
Publication date: Available online 4 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Arundhati Banerjee, Sujay RayAbstractFor night blindness, a detailed structural exploration of the interactions among G-protein receptor rhodopsin, transducin and arrestin was performed. Rhodopsin is responsible for dim light vision while a point mutation (G90→D90) results in an adverse change in its photo-transduction. The validated 3D models of the three proteins were utilized, and upon mutation and interactions, rhodopsin attained higher stability (evaluated through thermodynamic ene...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 5, 2019 Category: Cytology Source Type: research

Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk
In this study, we performed targeted sequencing of BRCA1/2 in 145 breast cancer (BC) patients with a family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without a family history of cancer. Subjects for this study were recruited in the Voronezh region of the Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants have not been previously reported as associated with risk of breast cancer. Presence of the rs4987117 variant increases risk of breast cancer onset (OR = 2.76...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 4, 2019 Category: Cytology Source Type: research

Germline variants of BRCA1 and BRCA2 genes in population of Voronezh region of Russian Federation and their association with risk of breast cancer
In this study, we performed whole-gene analysis of BRCA1/2 in 145 breast cancer (BC) patients with family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without family history of cancer. Subjects for study were recruited in the Voronezh region of Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants were not previously reported as associated with risk of breast cancer. Presence of rs4987117 variant increases risk of breast cancer onset (OR = 2.76, p-value = 0.022)...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 30, 2018 Category: Cytology Source Type: research

Eggplant fruits protect against DNA damage and mutations
This study demonstrated that these eggplants seem to be safe for consumption and their extracts could protect against DNA damage. Thus, these eggplants have the potential to provide health benefits associated with prevention or reduced risk of developing chronic diseases, such as cancer. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research

Mutation analysis of ZP1, ZP2, ZP3 and ZP4 genes in 152 Han Chinese samples with ovarian endometriosis
In conclusion, we identified two novel mutations in the ZP4 gene in 2.0% of Han Chinese patients with ovarian endometriosis for the first time, our results suggested that mutations in ZP4, but not ZP1, ZP2 and ZP3, might play active roles in the pathogenesis of ovarian endometriosis, despite the mutation-carriers present with complex fertility outcomes. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research